D42N (p.Asp42Asn) variant of CASP9 (Caspase-9)
D42N (p.Asp42Asn) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- TOPMed rs1020768675
- gnomAD rs1020768675
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.16
- CADD 27.80
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available